Rare Disease
AS - Angelman Syndrome
Alias:
As
Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly
Puppetlike Syndrome
Neuronal diseases
Mental diseases
Basic Information
Medical Symptom
Age Of Onset
Related Gene
Drugs
Disease Model
Basic Information
Angelman Syndrome, also known as as, is related to angelman syndrome due to imprinting defect in 15q11-q13 and prader-willi syndrome, and has symptoms including constipation, seizures and tremor, limb. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are GABA B receptor activation and Prader-Willi and Angelman syndrome. The drugs Carbidopa and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include tongue and skin, and related phenotypes are eeg abnormality and ataxia
Medical Symptom
Even among those with the same illness, each patient's condition and symptoms are unique. To provide patient-centered medical care, medical professionals must carefully evaluate individual differences between patients. This involves thorough assessment of medical details when diagnosing and developing treatment plans. To achieve personalized and maximally effective care, practitioners refer to the latest research and standards of care to tailor treatment strategies for each patient.
Age Of Onset
The symptoms and onset times of different diseases vary significantly because of a variety of factors, including genetics, environment, lifestyle, etc. While some illnesses may not show symptoms until later in life, others may. Furthermore, the age at which a disease manifests varies according to its nature. For these reasons, knowledge of the signs and timing of the disease is essential to diagnosis and prompt treatment.
Related Gene
Even among those with the same illness, each patient's condition and symptoms are unique. To provide patient-centered medical care, medical professionals must carefully evaluate individual differences between patients. This involves thorough assessment of medical details when diagnosing and developing treatment plans. To achieve personalized and maximally effective care, practitioners refer to the latest research and standards of care to tailor treatment strategies for each patient.
Drugs
Gene target medications are a novel form of treatment that can alter genes or proteins while also blocking disease processes. It precisely detects and chooses target proteins in order to induce therapeutic effects. Target medications are categorized into several groups based on disease causes and molecular foundation, and numerous ways are employed to treat illnesses.
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CAS Number
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Phase
No data available
Disease Model
The mouse disease model refers to the manipulation of the mouse genome through gene editing and other techniques, enabling it to carry a specific disease gene or lack an important gene. This provides an experimental platform for researching the mechanism of disease occurrence, drug development, and treatment efficacy.
BioGPT